Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3973
Gene name	Luteinizing hormone/choriogonadotropin receptor
Gene symbol	LHCGR
Synonyms (NCBI Gene)	HHGLCGRLGR2LH/CG-RLH/CGRLHRLHRHRLSH-RULG5
Chromosome	2
Chromosome location	2p16.3
Summary	This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene resul

Show/Hide all (29)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019289	hsa-miR-148b-3p	Microarray	17612493
MIRT437925	hsa-miR-513a-3p	qRT-PCRLuciferase reporter assay	24747085
MIRT437925	hsa-miR-513a-3p	qRT-PCRLuciferase reporter assay	24747085
MIRT437925	hsa-miR-513a-3p	qRT-PCRLuciferase reporter assay	24747085
MIRT437925	hsa-miR-513a-3p	qRT-PCRLuciferase reporter assay	24747085
MIRT437925	hsa-miR-513a-3p	qRT-PCRLuciferase reporter assay	24747085
MIRT437925	hsa-miR-513a-3p	qRT-PCRLuciferase reporter assay	24747085
MIRT1108648	hsa-miR-146a	CLIP-seq
MIRT1108649	hsa-miR-146b-5p	CLIP-seq
MIRT1108650	hsa-miR-3065-3p	CLIP-seq
MIRT1108651	hsa-miR-4461	CLIP-seq
MIRT1108652	hsa-miR-512-5p	CLIP-seq
MIRT1108653	hsa-miR-580	CLIP-seq
MIRT1108654	hsa-miR-589	CLIP-seq
MIRT1108655	hsa-miR-759	CLIP-seq
MIRT2030000	hsa-miR-3160-5p	CLIP-seq
MIRT2030001	hsa-miR-3929	CLIP-seq
MIRT2030002	hsa-miR-409-3p	CLIP-seq
MIRT2030003	hsa-miR-4419b	CLIP-seq
MIRT2030004	hsa-miR-4478	CLIP-seq
MIRT2030002	hsa-miR-409-3p	CLIP-seq
MIRT2260964	hsa-miR-548c-3p	CLIP-seq
MIRT2390115	hsa-miR-3677-5p	CLIP-seq
MIRT2390116	hsa-miR-4251	CLIP-seq
MIRT2390117	hsa-miR-4474-3p	CLIP-seq
MIRT2390118	hsa-miR-4662a-5p	CLIP-seq
MIRT2390119	hsa-miR-4775	CLIP-seq
MIRT2390120	hsa-miR-539	CLIP-seq
MIRT2390121	hsa-miR-891b	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
NR2C2	Activation	11682620
NR2F1	Repression	11682620
NR2F6	Repression	11682620

Show/Hide all (53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001541	Process	Ovarian follicle development	IBA
GO:0001541	Process	Ovarian follicle development	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004964	Function	Luteinizing hormone receptor activity	IBA
GO:0004964	Function	Luteinizing hormone receptor activity	IEA
GO:0004964	Function	Luteinizing hormone receptor activity	IMP	11847099
GO:0005768	Component	Endosome	TAS	10617611
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11847099
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	7719343, 10617611
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	9626653
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	7719343
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISS
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IBA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0008528	Function	G protein-coupled peptide receptor activity	IBA
GO:0008584	Process	Male gonad development	IBA
GO:0008584	Process	Male gonad development	IEA
GO:0008584	Process	Male gonad development	TAS	7719343
GO:0008585	Process	Female gonad development	IEA
GO:0009755	Process	Hormone-mediated signaling pathway	IBA
GO:0016020	Component	Membrane	IEA
GO:0016500	Function	Protein-hormone receptor activity	IEA
GO:0022602	Process	Ovulation cycle process	IBA
GO:0022602	Process	Ovulation cycle process	IEA
GO:0030539	Process	Male genitalia development	TAS	9626653
GO:0032870	Process	Cellular response to hormone stimulus	IEA
GO:0032962	Process	Positive regulation of inositol trisphosphate biosynthetic process	IEA
GO:0032962	Process	Positive regulation of inositol trisphosphate biosynthetic process	ISS
GO:0034451	Component	Centriolar satellite	IDA
GO:0034698	Process	Response to gonadotropin	IEA
GO:0035472	Function	Choriogonadotropin hormone receptor activity	IEA
GO:0035472	Function	Choriogonadotropin hormone receptor activity	ISS
GO:0038106	Function	Choriogonadotropin hormone binding	IEA
GO:0038106	Function	Choriogonadotropin hormone binding	ISS
GO:0042700	Process	Luteinizing hormone signaling pathway	IBA
GO:0042700	Process	Luteinizing hormone signaling pathway	IMP	11847099
GO:0046544	Process	Development of secondary male sexual characteristics	IEA
GO:0050890	Process	Cognition	IMP	23227193
GO:0060065	Process	Uterus development	IEA
GO:0071371	Process	Cellular response to gonadotropin stimulus	IEA
GO:0071371	Process	Cellular response to gonadotropin stimulus	ISS
GO:0071373	Process	Cellular response to luteinizing hormone stimulus	IMP	11847099
GO:0072520	Process	Seminiferous tubule development	IEA
GO:0090030	Process	Regulation of steroid hormone biosynthetic process	IEA

MIM	HGNC	e!Ensembl
152790	6585	ENSG00000138039

P22888

Protein name

Lutropin-choriogonadotropic hormone receptor (LH/CG-R) (Luteinizing hormone receptor) (LHR) (LSH-R)

Protein function

Receptor for lutropin-choriogonadotropic hormone (PubMed:11847099). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11847099).

PDB

7FIG , 7FIH , 7FII , 7FIJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13306	LRR_5	49 → 149	BspA type Leucine rich repeat region (6 copies)	Repeat
PF13306	LRR_5	141 → 267	BspA type Leucine rich repeat region (6 copies)	Repeat
PF00001	7tm_1	376 → 623	7 transmembrane receptor (rhodopsin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Gonadal and thyroid cells.

Sequence

MKQRFSALQLLKLLLLLQPPLPRALREALCPEPCNCVPDGALRCPGPTAGLTRLSLAYLP
VKVIPSQAFRGLNEVIKIEISQIDSLERIEANAFDNLLNLSEILIQNTKNLRYIEPGAFI
NLPRLKYLSICNTGIRKFPDVTKVFSSESNFILEICDNLHITTIPGNAFQGMNNESVTLK
LYGNGFEEVQSHAFNGTTLTSLELKENVHLEKMHNGAFRGATGPKTLDISSTKLQALPSY
GLESIQRLIATSSYSLKKLPSRETFVNLLEATLTYPSHCCAFRNLPTKEQNFSHSISENF
SKQCESTVRKVNNKTLYSSMLAESELSGWDYEYGFCLPKTPRCAPEPDAFNPCEDIMGYD
FLRVLIWLINILAIMGNMTVLFVLLTSRYKLTVPRFLMCNLSFADFCMGLYLLLIASVDS
QTKGQYYNHAIDWQTGSGCSTAGFFTVFASELSVYTLTVITLERWHTITYAIHLDQKLRL
RHAILIMLGGWLFSSLIAMLPLVGVSNYMKVSICFPMDVETTLSQVYILTILILNVVAFF
IICACYIKIYFAVRNPELMATNKDTKIAKKMAILIFTDFTCMAPISFFAISAAFKVPLIT
VTNSKVLLVLFYPINSCANPFLYAIFTKTFQRDFFLLLSKFGCCKRRAELYRRKDFSAYT
SNCKNGFTGSNKPSQSTLKLSTLHCQGTALLDKTRYTEC

Sequence length

699

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling Ovarian steroidogenesis Prolactin signaling pathway		Hormone ligand-binding receptors G alpha (s) signalling events ADORA2B mediated anti-inflammatory cytokines production

275

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Disorder of sexual differentiation	Likely pathogenic; Pathogenic	rs121912524	RCV005623062
Gonadotropin-independent familial sexual precocity	Pathogenic; Likely pathogenic	rs121912540, rs757225917, rs121912518, rs121912519, rs121912521, rs121912523, rs121912526, rs121912528, rs121912531, rs121912533, rs121912534, rs121912535, rs121912532	RCV005925362 RCV005399152 RCV000015461 RCV000015462 RCV000015467 RCV002490374 RCV000015473 RCV000015476 RCV000015483 RCV000015487 RCV000015488 RCV000015489 RCV000015493 RCV000030141
Leydig cell adenoma, somatic, with male-limited precocious puberty	Pathogenic	rs121912532	RCV000015484
Leydig cell agenesis	Pathogenic; Likely pathogenic	rs757225917, rs2529810344, rs1680042817, rs121912518, rs121912537, rs121912520, rs121912523, rs121912524, rs121912525, rs121912529, rs2104352652, rs71245621, rs121912536, rs121912538, rs121912539 View all (6 more)	RCV005399152 RCV005059182 RCV003142542 RCV000763499 RCV000015464 RCV000015465 RCV000015469 RCV000015470 RCV003137526 RCV000015477 RCV000015479 RCV000015486 RCV000015490 RCV000015491 RCV000015492 RCV000581164 RCV000582170 RCV000656703 RCV000768371 RCV001027713 RCV001291522
Leydig cell hypoplasia, type II	Pathogenic	rs121912527, rs121912530	RCV000015475 RCV000015481
Leydig cell tumor	Pathogenic	rs121912532	RCV006253624
Leydig hypoplasia, type I	Likely pathogenic; Pathogenic	rs121912525	RCV000015472
LHCGR-related disorder	Likely pathogenic; Pathogenic	rs917607255, rs755654915, rs121912531, rs773279269	RCV003391556 RCV003408511 RCV003407338 RCV004754480
Luteinizing hormone resistance, female	Pathogenic; Likely pathogenic	rs121912520, rs121912524, rs121912529, rs2104352652	RCV000015466 RCV000015471 RCV000015478 RCV000015480
Precocious puberty in males	Pathogenic; Likely pathogenic	rs121912518, rs121912526	RCV000583503 RCV000581515
Pseudohermaphroditism	Pathogenic	rs750481017	RCV000583426
See cases	Likely pathogenic; Pathogenic	rs121912524	RCV002251907

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
46,XY disorder of sex development	Uncertain significance	rs1420297531	RCV003126301
Hypergonadotropic hypogonadism	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs12470652, rs11125179, rs2293275, rs6755901, rs777978092, rs10495956, rs558291070, rs62137532, rs200256443, rs199807908, rs78135094, rs10176989, rs886056145, rs886056146, rs73928204 View all (19 more)	RCV000305995 RCV000260201 RCV000290924 RCV000357135 RCV000380512 RCV000400075 RCV000408420 RCV000324261 RCV000295974 RCV000346658 RCV000287821 RCV000348327 RCV000392953 RCV000327667 RCV000335919 RCV000298657 RCV000332756 RCV000338998 RCV000336007 RCV000283585 RCV000313054 RCV000289681 RCV000391059 RCV000263657 RCV000348259 RCV000311287 RCV000365999 RCV000280149 RCV000355177 RCV000337425 RCV000320826 RCV000267125 RCV000268098 RCV000283986
Luteinizing hormone/choriogonadotropin receptor, lq variant	Benign	rs71245621	RCV002270219
Malignant lymphoma, large B-cell, diffuse	Benign	rs11892719	RCV005923864

Show/Hide Text Mining Associations (62)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Spontaneous	Associate	22369774
Acth Independent Macronodular Adrenal Hyperplasia	Associate	29183089
Adenoma	Associate	21490077
Adrenal Cortex Diseases	Associate	30924919
Adrenal Cortex Neoplasms	Associate	30924919
Adrenal Gland Diseases	Associate	29183089
Adrenal Gland Neoplasms	Associate	12519858
Adrenocortical Carcinoma	Associate	30924919
Alzheimer Disease	Associate	18439297
Alzheimer Disease	Inhibit	18439297
Amenorrhea	Associate	22369774, 27016457
Androgen Insensitivity Syndrome	Associate	24849377
Azoospermia	Associate	18508780
Breast Neoplasms	Associate	17692113, 17709176, 18758818, 26458823
Carcinogenesis	Associate	18758818, 21490077
Carcinoma Ovarian Epithelial	Associate	21711548, 23951246, 33374698
Cushing Syndrome	Associate	12519858
Disease	Associate	26458823
Disorder of Sex Development 46 XY	Associate	12050206, 15719037, 18433292, 21720050, 31167162, 34338568, 39285472, 7719343
Disorders of Sex Development	Associate	15719037, 18508780, 30444213, 31167162
Dyslipidemias	Associate	38129424
Empty Sella Syndrome	Associate	21683950, 32860205
Endometrial Neoplasms	Associate	29808163
Endometriosis	Associate	25935136
Erectile Dysfunction	Associate	30322327
Eunuchism	Associate	18508780
Familial Testotoxicosis	Associate	11200941, 11228053, 15719037, 32757547, 35909557, 7562970, 7593421, 9973550
Genu valgum st Helena familial	Associate	31167162
Growth Hormone Secreting Pituitary Adenoma	Associate	30924919
Hereditary Breast and Ovarian Cancer Syndrome	Associate	18758818
Hyperaldosteronism	Associate	26397949, 27196470, 34385710
Hyperandrogenism	Associate	31184707
Hyperplasia	Associate	21490077
Hypogonadism	Associate	23884663
Infertility	Associate	18508780, 21683950, 24849377, 25935136
Infertility Male	Associate	28367994
Leydig Cell Hypoplasia	Associate	12050206, 15719037, 18433292, 21720050, 22002533, 25079470, 26554443, 30444213, 32654531, 7719343, 9312107
Leydig Cell Tumor	Associate	21490077, 9598734
Macular Degeneration	Associate	28775256
Neoplasm Invasiveness	Associate	18758818
Neoplasms	Associate	15719037, 19356624, 21765906, 24554412, 25965968, 28416763, 31729966, 37068116
Neoplasms Cystic Mucinous and Serous	Associate	25528498
Oligospermia	Associate	18508780
Ovarian Diseases	Stimulate	22355044
Ovarian Diseases	Associate	38297261
Ovarian Dysgenesis 2	Associate	25565299
Ovarian Hyperstimulation Syndrome	Associate	23883350, 25888426
Ovarian Neoplasms	Associate	19010824, 21711548, 21765906, 22214378, 24554412, 25528498, 28427435, 31729966, 33374698
Paroxysmal ventricular fibrillation	Associate	22369774
Penis agenesis	Associate	18508780
Personality Disorders	Associate	28981526
Pheochromocytoma	Associate	35189708
Polycystic Ovary Syndrome	Associate	22546001, 23118426, 24592983, 25565299, 25649397, 25978310, 26305227, 26474478, 26662070, 28068351, 30844144, 31184707, 35872929, 36585675, 38129424
Polycystic Ovary Syndrome	Stimulate	31276164
Polycystic Ovary Syndrome	Inhibit	38008503
Primary Ovarian Insufficiency	Associate	25989972, 30016538
Prostatic Neoplasms	Associate	32881970
Puberty Delayed	Associate	18508780
Puberty Precocious	Associate	11200941, 20713483, 21490077, 26831561, 32757547, 38083932, 7562970, 8812739, 8929952, 9598734, 9973550
Stomach Neoplasms	Associate	32034058
Urinary Bladder Neoplasms	Associate	21483740
Weight Gain	Associate	30312418

LHCGR (luteinizing hormone/choriogonadotropin receptor)